Objective To study genotype combination distribution and frequency distribution of single nucleotide polymorphisms (SNP) at 3 sites of klotho gene. Methods The SNPs of klotho G-395A, F352V and C370S were detected by single allele-specific primer (NASP) PCR. The genotypes combination distribution of SNP at 3 sites of klotho was determined by clustering analysis technique. Results The genotype frequencies of GG,GA and AA were 47.66％ ,42. 58％ and 9. 76％ respectively in the Klotho G-395A SNP. G and A allele haplotype frequencies of Kloth G-395A SNP were 68.95％ and 31.05％ respectively. The genotype frequencies of FF, FV and VV were 35.49％ ,59.09％ and 5.61％ respectively in the klotho F352V SNP. F and V allele haplotype frequencies of klotho F352V SNP were 65.04％ and 34. 96％ respectively. The genotype frequencies of CC, CS and SS were 37. 30％ ,58. 76％ and 3. 88％ respectively in the klotho C370S SNP. C and S allele haplotype frequencies were 66. 68％ and 33. 32％ respectively in the klotho C370S SNP. The preceding 10 combinations in the natural combination distribution of three sites of Klotho SNP were fouud as follows: The genotype combination of 253 subjects( 16.92％ ) was klotho G-395G + F352V + C370S, the genotype combination of 241 subjects( 16. 12％ ) was klotho G-395A + F352V + C370S, the genotype combination of 152 subjects ( 10. 17％ ) was klotho G-395G + F352V + C370C, the genotype combination of 131 subjects(8.76％ ) was klotho G-395A + F352V + C370C, the genotype combination of 126 subjects(8.43％ ) was klotho G-395G + F352F + C370S, the genotype combination of 121 subjects(8.09％ ) was klotho G-395A + F352F + C370S,the genotype combination of 109 subjects(7. 29％ ) was klotho G-395G + F352F + C370C, the genotype combination of 86 subjects( 5.75％ ) was klotho G-395A + F352F +C70C, the genotype combination of 52 subjects(3.48％ ) was klotho A-395A + F352V + C370S, the genotype combination of 30 subjects (2. 01％ ) was klotho A-395A + F352F + C370C, the genotype combination of 30 subjects ( 2. 01％ ) was klotho G-395G + V352V + C370S. Conclusions This study finds features of combination distribution and frequency distribution of SNPs of klotho firstly and provides clues and evidences for further study of klotho gene and its expression.%目的 研究重庆地区汉族老年人群klotho G-395A、F352V与C370S 3个位点的单核苷酸多态性(SNP)及其等位基因频率、单倍型组合分布特征.方法 利用单一等位基因特异性引物PCR技术检测klotho G-395A、F352V、C370S的SNP,应用聚类分析其基因多态性特征.结果 klotho G-395A SNP 基因型分布 GG、GA、AA分别为47.66%、42.58%、9.76%,G、A等位基因频率分别为68.95%、31.05%;klotho F352V SNP 基因型分布 FF、FV、VV分别为35.49%、59.09%、5.61%,F、V等位基因频率分别为65.04%、34.96%;klotho C370S SNP 基因型分布CC CS、SS分别为37.30%、58.76%、3.88%,C、S等位基因频率分别为66.68%、33.32%.研究发现了klotho基因在3个位点的SNP前10种组合基因型分布:klotho G-395G+F352V+C370S 253例(16.92%),klotho G-395A+F352V+C370S 241例(16.12%),klotho G-395G+F352V+C370C 152例(10.17%),klotho G-395A+F352V+C370C 131例(8.76%),klotho G-395G+F352F+C370S 126例(8.43%),klotho G-395A+F352F+C370C 121例(8.09%),klotho G-395G+F352F+C370C 109例(7.29%),klotho G-395A+F352F+C370C 86例(5.75%),klotho A-395A+F352V+C370S 52例(3.48%),klotho A-395A+F352F+C370C 30例(2.01%),klotho G-395G+V352V+C370S 30例(2.01%).结论 本研究首次揭示了klotho基因的3个位点的SNP基因型组合分布特征,为进一步开展klotho基因及其表达研究提供了线索和依据.
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